✦ LIBER ✦

Molecular analysis of F8 in Lebanese haemophilia A patients: novel mutations and phenotype–genotype correlation

✍ Scribed by C. DJAMBAS KHAYAT; N. SALEM; E. CHOUERY; S. CORBANI; I. MOIX; E. NICOLAS; M.A. MORRIS; P. DE MOERLOOSE; A. MÉGARBANÉ

Book ID: 108773068
Publisher: John Wiley and Sons
Year: 2008
Tongue: English
Weight: 119 KB
Volume: 14
Category: Article
ISSN: 1351-8216
DOI: 10.1111/j.1365-2516.2008.01760.x

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Mutation analysis in 51 patients with ha

Mutation analysis in 51 patients with haemophilia A: report of 10 novel mutations and correlations between genotype and clinical phenotype

✍ M. Hill; S. Deam; B. Gordon; G. Dolan 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 83 KB

Molecular analysis of Japanese patients

Molecular analysis of Japanese patients with Rett syndrome: Identification of five novel mutations and genotype-phenotype correlation

✍ Yasukazu Yamada; Kiyokuni Miura; Toshiyuki Kumagai; Chiemi Hayakawa; Shuji Miyaz 📂 Article 📅 2001 🏛 John Wiley and Sons 🌐 English ⚖ 90 KB

Rett syndrome is an X-linked dominant neurodevelopmental disorder that affects females almost exclusively. The recent identification of mutations of the methyl-CpG-binding protein 2 gene (MECP2) in patients with RTT, encouraged us to analyze the gene in 37 Japanese patients divided into classical RT

A novel point mutation in severe haemoph

A novel point mutation in severe haemophilia A: a further proof of genotype-phenotype correlation

✍ A. BORCHIELLINI; M. P. BICOCCHI; C. AGUZZI; A. VALPREDA; F. VALERI; E. BEGGIATO; 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 47 KB

Molecular pathogenesis of Wilson disease

Molecular pathogenesis of Wilson disease: haplotype analysis, detection of prevalent mutations and genotype–phenotype correlation in Indian patients

✍ A. Gupta; D. Aikath; R. Neogi; S. Datta; K. Basu; B. Maity; R. Trivedi; J. Ray; 📂 Article 📅 2005 🏛 Springer 🌐 English ⚖ 428 KB

F8 and F9 mutations in US haemophilia pa

F8 and F9 mutations in US haemophilia patients: correlation with history of inhibitor and race/ethnicity

✍ C. H. MILLER; J. BENSON; D. ELLINGSEN; J. DRIGGERS; A. PAYNE; F. M. KELLY; J. M. 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 English ⚖ 105 KB

Identification of novel mutations in WFS

Identification of novel mutations in WFS1 and genotype–phenotype correlation in Wolfram syndrome

✍ A. Cano; C. Rouzier; S. Monnot; B. Chabrol; J. Conrath; P. Lecomte; B. Delobel; 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 153 KB 👁 2 views

## Abstract Mutations in the __WFS1__ gene have been reported in Wolfram syndrome (WS), an autosomal recessive disorder defined by early onset of diabetes mellitus (DM) and progressive optic atrophy. Because of the low prevalence of this syndrome and the recent identification of the __WFS1__ gene,